ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
The ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise identification of mutations responsible for this specific form of inherited retinal degeneration. Cone-rod dystrophy type 9 is an autosomal recessive condition characterized by progressive deterioration of both cone and rod photoreceptor cells, leading to significant visual impairment over time.
What This Advanced Genetic Test Detects
This sophisticated diagnostic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the ADAM9 gene for pathogenic variants. The ADAM9 gene encodes a disintegrin and metalloproteinase domain-containing protein 9, which plays a crucial role in retinal development and maintenance. Mutations in this gene disrupt normal retinal function, leading to the characteristic symptoms of cone-rod dystrophy.
- Detection of point mutations, insertions, and deletions in the ADAM9 gene
- Identification of compound heterozygous mutations
- Analysis of known pathogenic variants associated with cone-rod dystrophy type 9
- Comprehensive coverage of coding regions and splice sites
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing symptoms suggestive of inherited retinal disorders or those with a family history of cone-rod dystrophy. Key indications include:
- Progressive vision loss beginning in childhood or early adulthood
- Difficulty with color discrimination and central vision
- Photophobia (light sensitivity) and reduced visual acuity
- Night blindness that progressively worsens
- Family history of inherited retinal diseases
- Abnormal electroretinogram (ERG) results indicating cone-rod dysfunction
- Individuals planning family with known carrier status in the family
Significant Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through this test provides numerous advantages for patients and their families:
- Accurate Prognosis: Understanding the specific genetic cause enables better prediction of disease progression and visual outcomes
- Targeted Management: Allows for personalized vision rehabilitation and low vision services
- Genetic Counseling: Provides essential information for family planning and reproductive decisions
- Clinical Trial Eligibility: Opens opportunities for participation in emerging gene therapy trials
- Family Screening: Enables testing of at-risk relatives for early intervention
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for future planning
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and ophthalmology specialists. Results typically fall into one of several categories:
- Positive Result: Identification of two pathogenic mutations confirms the diagnosis of cone-rod dystrophy type 9
- Carrier Status: Detection of a single mutation indicates carrier status without disease manifestation
- Negative Result: No pathogenic mutations detected, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identification of genetic changes with unknown clinical impact requiring further evaluation
All positive results include comprehensive genetic counseling to help you understand inheritance patterns, recurrence risks, and available management options.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your vision health continue. Early genetic diagnosis can provide the clarity needed for effective management and future planning. Our team of genetic specialists and ophthalmologists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic DNA Test. Take the first step toward understanding your genetic vision health with our comprehensive $500 USD testing service.
